Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Asp66His (p.D66H)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Asp66His (p.D66H) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Mutilating keratoderma
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.482171534976642
- Year of publication
- NA
Drugs